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Wongkittichote,                P, Choi,                TI, Kim,                OH, Riley,                K, Koeberl,                D,                Narayanan,              V, et al.            Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A            novel hypomorphic variant and high prevalence of tethered cord.            Clin Genet          2023;103: 167\u201378.","DOI":"10.1111\/cge.14248"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Godfrey,                ND,                Dowlatshahi,              S, Martin,                MM,                Rothkopf,              DM.            Wieacker-Wolff syndrome with associated cleft palate in a female            case. Am J Med Genet A          2018;176: 167\u201370.","DOI":"10.1002\/ajmg.a.38527"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Wieacker,                P, Wolff,                G, Wienker,                TF, Sauer,                M. 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Loss of protein function causing severe phenotypes of Female-restricted            Wieacker Wolff syndrome due to a novel nonsense mutation in the ZC4H2            gene. Genes (Basel)          2022;13: 1558.","DOI":"10.3390\/genes13091558"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Frints,                SGM,              Hennig, F,                Colombo, R,                Jacquemont,              S, Terhal,                P,                Zimmerman,              HH, et al.            Deleterious de novo variants of X-linked ZC4H2 in females cause a            variable phenotype with neurogenic arthrogryposis multiplex congenita.            Hum Mutat          2019;40: 2270\u201385.","DOI":"10.1002\/humu.23841"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Kondo,              D, Noguchi,                A,                Takahashi,              I, Kubota,                H, Yano,                T, Sato,                Y, et al.            A novel ZC4H2 gene mutation, K209N, in Japanese siblings with            arthrogryposis multiplex congenita and intellectual disability: characterization of the            K209N mutation and clinical findings. Brain Dev          2018;40: 760\u20137.","DOI":"10.1016\/j.braindev.2018.05.003"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Piccolo,              G,              d\u2019Annunzio,            G, Amadori,                E, Riva,                A, Borgia,                P, Tortora,                D, et al.            Neuromuscular and neuroendocrinological features associated with            ZC4H2-related arthrogryposis multiplex congenita in a sicilian family: a case            report. Front Neurol          2021;12: 704747.","DOI":"10.3389\/fneur.2021.704747"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. May,              M, Hwang,                KS, Miles,                J,              Williams, C,                Niranjan,            T, Kahler,                SG, et al.            ZC4H2, an XLID gene, is required for the generation of a specific subset            of CNS interneurons. Hum Mol Genet          2015;24: 4848\u201361.","DOI":"10.1093\/hmg\/ddv208"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Richards,                S, Aziz,                N, Bale,                S, Bick,                D, Das,                S,                Gastier-Foster,              J, et al.            ACMG Laboratory Quality Assurance Committee.            Standards and guidelines for the interpretation of sequence variants: a            joint consensus recommendation of the American College of Medical Genetics and Genomics            and the Association for Molecular Pathology. Genet Med          2015;17: 405\u201324.","DOI":"10.1038\/gim.2015.30"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Fukutomi,                M,                Shimodera,              M, Maeda,                Y, Iwakura,                M, Hara,                M. Safety and            effectiveness, including intelligence prognosis, of diazoxide in pediatric patients with            hyperinsulinemic hypoglycemia: special survey in Japan (long-term, all-case            survey). Clin Pediatr Endocrinol          2018;27: 131\u201343.","DOI":"10.1297\/cpe.27.131"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Brar,              PC, Heksch,                R, Cossen,                K, De Leon,                DD, Kamboj,                MK, Marks,                SD, et al.            Management and appropriate use of diazoxide in infants and children with            hyperinsulinisms. J Clin Endocrinol Metab          2020;105: 3750\u201361.","DOI":"10.1210\/clinem\/dgaa543"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Ma,                P, Ren,                B, Yang,                X, Sun,                B, Liu,                X, Kong,                Q, et al.            ZC4H2 stabilizes Smads to enhance BMP signalling, which is involved in            neural development in <i>Xenopus<\/i>. Open            Biol          2017;7: 170122.","DOI":"10.1098\/rsob.170122"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Lin,              HM, Lee,                JH, Yadav,                H,              Kamaraju, AK,                Liu, E,                Zhigang, D,              et al. Transforming growth factor-\u03b2\/Smad3            signaling regulates insulin gene transcription and pancreatic islet \u03b2-cell            function. J Biol Chem          2009;284: 12246\u201357.","DOI":"10.1074\/jbc.M805379200"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Urizar,              AI, Prause,                M,                Ingerslev,              LR, Wortham,                M, Sui,                Y, Sander,                M, et al.            Beta cell dysfunction induced by bone morphogenetic protein (BMP)-2 is            associated with histone modifications and decreased NeuroD1 chromatin            binding. Cell Death Dis          2023;14: 399.","DOI":"10.1038\/s41419-023-05906-w"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Musthaffa,                YM, Goyal,                V, Harris,                MA, Kapur,                N, Leger,                J, Harris,                M.            Dysregulated glucose homeostasis in congenital central hypoventilation            syndrome. J Pediatr Endocrinol Metab          2018;31: 1325\u201333.","DOI":"10.1515\/jpem-2018-0086"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Mejia-Otero,                JD,                Grishman,              EK, Patni,                N. Diazoxide            for the treatment of hypoglycemia resulting from dumping syndrome in a            child. J Endocr Soc          2019;3: 1357\u201360.","DOI":"10.1210\/js.2019-00120"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Aldawsari,                KA, Mattos,                C, Khan,                DM,              Beckett, O,                Pagan,            P. Successful            treatment of dumping syndrome with diazoxide in an infant with hypoplastic left heart            syndrome. 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